T74I (p.Thr74Ile) variant of NIPBL (Nipped-B-like protein)
T74I (p.Thr74Ile) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T74I (p.Thr74Ile) variant details
- p.Thr74Ile
- gnomAD 5-36955628-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.93
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available